Canonical Allele Identifier: CA2684616502
Gene: CFTR HGNC NCBI

Linked Data

gnomAD v4: 7-117479552-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479552C>A , CM000669.2:g.117479552C>A GRCh38
NC_000007.13:g.117119606C>A , CM000669.1:g.117119606C>A GRCh37
NC_000007.12:g.116906842C>A NCBI36
NG_016465.4:g.18769C>A , LRG_663:g.18769C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-333C>A ENSP00000417012.1:n.-333C>A
ENST00000673785.1:c.-406+13721C>A ENSP00000501235.1:n.-406+13721C>A
ENST00000446805.1:c.-333C>A ENSP00000417012.1:n.-333C>A
ENST00000546407.1:n.166+3744C>A
XM_011515751.1:c.143+207C>A XP_011514053.1:n.143+207C>A
XM_011515752.1:c.143+207C>A XP_011514054.1:n.143+207C>A
XM_011515753.1:c.-333C>A XP_011514055.1:n.-333C>A
XM_011515754.1:c.-661C>A XP_011514056.1:n.-661C>A
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